Search results for "congenital"

Investigation and management of Toxoplasma gondii infection in pregnancy and infancy: a prospective study.

2011

Aim:Toxoplasma gondii infection during pregnancy poses a serious risk to the fetus, therefore timely and accurate diagnosis is essential. The aim of this study was to estimate the frequency of congenital infection via evaluating mother's immunological status and the possibility to improving the diagnostic and therapeutic approaches.Methods:Eighty five mothers with Toxoplasma seroconversion and their offspring were enrolled (among them, 2 spontaneous abortions were documented in the first trimester). Prenatal PCR diagnosis was carried out on 50 patients (60%), with 7 positive cases (14%). Morphological ultrasound scanning revealed anomalies in one fetus. Long-term follow-up included general …

Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial

2017

[Purpose] Physical therapy is an acknowledged and frequently applied method for infantile postural asymmetry. However, there is not yet sufficient evidence for its effectiveness. [Subjects and Methods] In a randomised controlled trial, the effect of Vojta therapy versus Neurodevelopmental treatment is assessed in infants with postural asymmetry. 65 infants with postural asymmetry were recruited. 37 infants aged six to eight weeks (mean 7.38) were found to be eligible and randomly assigned to two groups, with 19 receiving Vojta and 18 Neurodevelopmental treatment. Using a standardised and blinded video-based assessment, we documented restriction in head rotation and convexity of the spine in…

The world of twins: an update

2010

In last years, owing to the widespread availability of assisted-reproduction technology, multiple pregnancy rates in Western countries have increased. In twin pregnancies, an increased rate of gestational complications, intrauterine growth restriction (IUGR), preterm birth and severe perinatal conditions is present. These complications are more frequent in monozygotic twins compared to dizygotic twins as well as an increased relative risk of chromosomal abnormalities and congenital malformation. Monochorionic twins are at higher risk for complications, since they share a common placenta where an imbalance in unidirectional arteriovenous anastomoses can lead to twin#x2013;twin transfusion sy…

Sudden cardiac death due to anomalous origin of the right coronary artery: A case report in a child

2006

Congenital myopathy and epidermolysis bullosa due to PLEC variant

2021

Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.

Pathogenesis and treatment of hirsutism in late-onset congenital adrenal hyperplasia

1995

Late-onset or nonclassic hyperandrogenic congenital adrenal hyperplasia (CAH) is an attenuated deficiency of 21-hydroxylase, 3β-ol-hydroxysteroid dehydrogenase or 11β-hydroxylase which presents during childhood or adolescence and leads to an increased secretion of adrenal androgens. Many reviews of the genetic or hormonal characteristics of these syndromes have been published, but relatively little attention has been paid to the pathogenesis and treatment of hirsutism which, in most young women, is the main complaint. In fact, it is generally assumed that the hirsutism is strictly related to the increased secretion of adrenal androgens and that glucocorticoids are the treatment of choice. H…

Cytomegalovirus disappearance after treatment for refractory ulcerative colitis in 2 patients treated with infliximab and 1 patient with leukapheresis

2009

Posterior Approach to Axis Instability

2016

Many pathologies can cause instability of the cranio-vertebral junction (CVJ). Among the most common diseases must be considered thraumatisms, neoplasms, inflammation, but also congenital malformations. Instability of the CVJ is a potentially life-threatening condition and improper treatment can lead to severe neurological deficits as well as continuous, excruciating pain in the neck. Conservative treatments are often disappointing and surgery must always be taken in consideration when approaching instability of the CVJ, being in many cases the only therapy that can provide satisfactory results.

Messung der Pfannenwanderung bei zementfreien Hüftimplantaten

1998

PURPOSE Migration measurements of acetabular components using a special computer aided method (EBRA = abbreviation for the German term "Ein-Bild-Rontgenanalyse") were performed to evaluate early results of the implants and predict aseptic loosening. METHODS Standard ap-radiographs of the pelvis were marked, specific points were digitised. Simulating the spatial situation the programme computes longitudinal and vertical migration of the cup. 74 acetabular components in 71 patients could be studied by migration measurements. RESULTS 14 patients showed migration of more than 1 mm, which is the confidence limit of this method. Each of these patients showed diverse reasons for the migration, i.e…

Poland’s Syndrome

2020

Poland’s syndrome is a sporadic, congenital thoracic deformity, mostly unilateral, with a wide spectrum of presentation. The thoracic malformations are distinguished on the basis of the anatomical site in which an embryological development alteration has occurred after the fourth week of gestation (Table 3.1) [1]. Poland’s syndrome is a rare congenital and complex anomaly of the development of thoracic muscles, characterized by hypoplasia of the breast and nipple, scarcity of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, lack of the pectoralis minor muscle, aplasia or deformity of the costal cartilages or ribs II to IV or III to V, alopecia of the …